Lionel Van Maldergem
Overview
Explore the profile of Lionel Van Maldergem including associated specialties, affiliations and a list of published articles.
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131
Citations
4222
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Recent Articles
1.
Courraud J, Engel C, Quartier A, Drouot N, Houessou U, Plassard D, et al.
Mol Psychiatry
. 2023 Nov;
29(2):287-296.
PMID: 38030819
Mutations in the PQBP1 gene (polyglutamine-binding protein-1) are responsible for a syndromic X-linked form of neurodevelopmental disorder (XL-NDD) with intellectual disability (ID), named Renpenning syndrome. PQBP1 encodes a protein involved...
2.
Peluso F, Caraffi S, Contro G, Valeri L, Napoli M, Carboni G, et al.
J Med Genet
. 2023 Aug;
60(12):1224-1234.
PMID: 37586838
Background: KBG syndrome is caused by haploinsufficiency of and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and seizures....
3.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1023-1031.
PMID: 37344571
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals...
4.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor A, Sullivan J, et al.
Am J Hum Genet
. 2023 Feb;
110(3):499-515.
PMID: 36724785
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of...
5.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, et al.
Elife
. 2023 Jan;
12.
PMID: 36648066
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in were identified in individuals with...
6.
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam M, Bjornsson H, et al.
Am J Hum Genet
. 2022 Sep;
109(10):1867-1884.
PMID: 36130591
Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we...
7.
Kornak U, Saha N, Keren B, Neumann A, Taylor Tavares A, Piard J, et al.
Genet Med
. 2022 Jun;
24(9):1927-1940.
PMID: 35670808
Purpose: In this study we aimed to identify the molecular genetic cause of a progressive multisystem disease with prominent lipodystrophy. Methods: In total, 5 affected individuals were investigated using exome...
8.
Lehalle D, Bruel A, Vitobello A, Denomme-Pichon A, Duffourd Y, Assoum M, et al.
Am J Med Genet A
. 2022 Apr;
188(7):2036-2047.
PMID: 35445792
Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL),...
9.
Harhouri K, Cau P, Casey F, Guedenon K, Doubaj Y, Van Maldergem L, et al.
Cells
. 2022 Feb;
11(4).
PMID: 35203262
Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point...
10.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng S, Li Y, et al.
Nat Genet
. 2022 Jan;
54(2):213.
PMID: 35064218
No abstract available.